This is the github repository for the Eichler lab Amazon Web Services (AWS) pipelines

Codes for exome sequencing class being taught by Tychele N. Turner, Ph.D.

Codes for genome sequencing class being taught by Tychele N. Turner, Ph.D.

CNVs-study-from-SNPs-arrays describes a workflow to detect and analyze CNVs out of large scale microarray-based genotype data.

TAD-aware annotation of CNVs

A webtool for the clinical interpretation of CNVs in rare disease patients

A fully-functional & foolproof Laravel Blog + Publishing Platform built on https://github.com/cnvs/canvas

Package for easy and fast prediction and interpretation of the clinical impact of Copy Number Variants (CNVs)

Supporting material for H3Africa Structural and Copy Number Variant paper: summary data and scripts

POSTRE: Prediction Of STRuctural variant Effects

Automated Validation of CNV calls from SNPs array, plus functions to analyse the results